Received January 21, 2008; Revision received August 4, 2008
TATA-binding protein (TBP) is the first basal factor that recognizes and
binds a TATA box on TATA-containing gene promoters transcribed by RNA
polymerase II. Data available in the literature are indicative of
admissible variability of the TATA box. The TATA box flanking sequences
can influence TBP affinity as well as the level of basal and activated
transcription. The possibility of mediated involvement in in
vivo gene expression regulation of the TBP interactions with
variant TATA boxes is supported by data on TATA box polymorphisms and
associated human hereditary pathologies. A table containing data on
TATA element polymorphisms in human gene promoters (about 40 mutations
have been described), associated with particular pathologies, their
short functional characteristics, and manifestation mechanisms of
TATA-box SNPs is presented. Four classes of polymorphisms are
considered: TATA box polymorphisms that weaken and enhance promoter,
polymorphisms causing TATA box emergence and disappearance, and human
virus TATA box polymorphisms. The described examples are indicative of
the polymorphism-associated severe pathologies like thalassemia, the
increased risk of hepatocellular carcinoma, sensitivity to H.
pylori infection, oral cavity and lung cancers, arterial
hypertension, etc.
KEY WORDS: TATA box, gene expression, SNP, hereditary pathologies